TY - JOUR T1 - A locus for asphyxiating thoracic dystrophy, <em>ATD</em>, maps to chromosome 15q13 JF - Journal of Medical Genetics JO - J Med Genet SP - 431 LP - 435 DO - 10.1136/jmg.40.6.431 VL - 40 IS - 6 AU - N V Morgan AU - C Bacchelli AU - P Gissen AU - J Morton AU - G B Ferrero AU - M Silengo AU - P Labrune AU - I Casteels AU - C Hall AU - P Cox AU - D A Kelly AU - R C Trembath AU - P J Scambler AU - E R Maher AU - F R Goodman AU - C A Johnson Y1 - 2003/06/01 UR - http://jmg.bmj.com/content/40/6/431.abstract N2 - Asphyxiating thoracic dystrophy (ATD), or Jeune syndrome, is a multisystem autosomal recessive disorder associated with a characteristic skeletal dysplasia and variable renal, hepatic, pancreatic, and retinal abnormalities. We have performed a genome wide linkage search using autozygosity mapping in a cohort of four consanguineous families with ATD, three of which originate from Pakistan, and one from southern Italy. In these families, as well as in a fifth consanguineous family from France, we localised a novel ATD locus (ATD) to chromosome 15q13, with a maximum cumulative two point lod score at D15S1031 (Zmax=3.77 at ϑ=0.00). Five consanguineous families shared a 1.2 cM region of homozygosity between D15S165 and D15S1010. Investigation of a further four European kindreds, with no known parental consanguinity, showed evidence of marker homozygosity across a similar interval. Families with both mild and severe forms of ATD mapped to 15q13, but mutation analysis of two candidate genes, GREMLIN and FORMIN, did not show pathogenic mutations. ER -